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rs386834187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834187(A;A)
Make rs386834187(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93791320
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834187
ebirs386834187
HLIrs386834187
Exacrs386834187
Varsomers386834187
Maprs386834187
PheGenIrs386834187
hapmaprs386834187
1000 genomesrs386834187
hgdprs386834187
ensemblrs386834187
gopubmedrs386834187
geneviewrs386834187
scholarrs386834187
googlers386834187
pharmgkbrs386834187
gwascentralrs386834187
openSNPrs386834187
23andMers386834187
23andMe allrs386834187
SNP Nexus

SNPshotrs386834187
SNPdbers386834187
MSV3drs386834187
GWAS Ctlgrs386834187
Max Magnitude0
ClinVar
Risk rs386834187(A;A)
Alt rs386834187(A;A)
Reference rs386834187(G;G)
Significance Other
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94803548G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001435.7,


[PMID 16415887] The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.


[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.